University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
J Invest Dermatol. 2019 Jan;139(1):22-24. doi: 10.1016/j.jid.2018.08.010.
KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies focused on skin fragility. However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association. In addition, neurological disease is suspected as well. Careful clinical follow-up and functional studies of (mutated) KLHL24 in these tissues are needed.
KLHL24 突变最近与单纯型大疱性表皮松解症有关。最初的研究集中在皮肤脆弱性上。然而，KLHL24 突变导致人类非皮肤性疾病的情况正在显现，其中扩张型心肌病是一个强烈的关联。此外，神经疾病也被怀疑存在。在这些组织中，需要对（突变的）KLHL24 进行仔细的临床随访和功能研究。
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